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Melissa Gibbons
Melissa Gibbons
Assistant Professor
Verified email at childrenscolorado.org
Title
Cited by
Cited by
Year
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
D Sharon, MA Sandberg, VW Rabe, M Stillberger, TP Dryja, EL Berson
The American Journal of Human Genetics 73 (5), 1131-1146, 2003
2512003
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
JL Zambonin, A Bellomo, H Ben-Pazi, DB Everman, LM Frazer, ...
Orphanet journal of rare diseases 12, 1-8, 2017
562017
The epilepsy genetics initiative: systematic reanalysis of diagnostic exomes increases yield
Epilepsy Genetics Initiative, SF Berkovic, DB Goldstein, EL Heinzen, ...
Epilepsia 60 (5), 797-806, 2019
492019
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype
S Donkervoort, M Papadaki, JM De Winter, MB Neu, J Kirschner, V Bolduc, ...
Annals of neurology 78 (6), 982-994, 2015
492015
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn
Y Wada, MA Sandberg, TL McGee, MA Stillberger, EL Berson, TP Dryja
Investigative ophthalmology & visual science 46 (5), 1735-1741, 2005
472005
Psychosocial management of the patient with Duchenne muscular dystrophy
MK Colvin, J Poysky, K Kinnett, M Damiani, M Gibbons, J Hoskin, ...
Pediatrics 142 (Supplement_2), S99-S109, 2018
452018
Expression of the Arf tumor suppressor gene is controlled by Tgfβ2 during development
NE Freeman-Anderson, Y Zheng, AC McCalla-Martin, LM Treanor, ...
Oxford University Press for The Company of Biologists Limited 136 (12), 2081 …, 2009
332009
Tgfβ signaling directly induces Arf promoter remodeling by a mechanism involving Smads 2/3 and p38 MAPK
Y Zheng, YD Zhao, M Gibbons, T Abramova, PY Chu, JD Ash, ...
Journal of biological chemistry 285 (46), 35654-35664, 2010
292010
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
S Kour, DS Rajan, TR Fortuna, EN Anderson, C Ward, Y Lee, S Lee, ...
Nature communications 12 (1), 2558, 2021
282021
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
AJ Lee, KA Jones, RJ Butterfield, MO Cox, CG Konersman, C Grosmann, ...
Neurology: Genetics 5 (2), e315, 2019
152019
Spinal muscular atrophy (SMA) in the therapeutic era
M Gibbons, A Stratton, J Parsons
Current Genetic Medicine Reports 7, 162-167, 2019
42019
An objective method for evaluating next-generation sequencing panels
K Angione, M Gibbons, S Demarest
Journal of Child Neurology 34 (3), 139-143, 2019
32019
Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications
DC Brock, M Abbott, L Reed, R Kammeyer, M Gibbons, K Angione, ...
Epilepsy Research 193, 107167, 2023
12023
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
M Lietsch, K Chan, J Taylor, BH Lee, E Ciafaloni, JM Kwon, MA Waldrop, ...
International Journal of Neonatal Screening 10 (2), 34, 2024
2024
P. 220 Neuropsychological functioning in CMT type 2Z: A case report of language deficits masquerading as intellectual disability
A Miele, M Yang, S Apkon, C Silver, M Gibbons, H Foster, A Ballard
Neuromuscular Disorders 32, S135, 2022
2022
GP 272: Novel deletions in TPM3 define a hypercontractile phenotype with marked congenital muscle stiffness: Expanding the spectrum of TPM3 related disease
S Donkervoort, M Neu, J Kirschner, ML Yang, SB Marston, MA Gibbons, ...
Neuromuscular Disorders 24 (9), 898-899, 2014
2014
DIFFERENTIATION THERAPY IN RHABDOMYOSARCOMA: DEVELOPING A HIGH THROUGHPUT SCREEN FOR SKELETAL MUSCLE DIFFERENTIATION
D Dighe, M Gibbons, A Zelivianskaia, S Skapek
PEDIATRIC BLOOD & CANCER 54 (6), 848-848, 2010
2010
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Articles 1–17